Canonical Allele Identifier: CA482159178

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615213C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177410C>T , CM000674.2:g.121177410C>T	GRCh38
NC_000012.11:g.121615213C>T , CM000674.1:g.121615213C>T	GRCh37
NC_000012.10:g.120099596C>T	NCBI36
NG_011471.2:g.49536C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1152C>T MANE Select	ENSP00000330696.6:p.Tyr384=
ENST00000261826.10:c.*605C>T	ENSP00000261826.6:n.*605C>T
ENST00000328963.9:c.1152C>T	ENSP00000330696.6:p.Tyr384=
ENST00000535250.5:c.1236C>T	ENSP00000442572.2:n.1236C>T
ENST00000535600.2:c.969C>T	ENSP00000442470.1:n.969C>T
ENST00000537312.5:c.*923C>T	ENSP00000438586.1:n.*923C>T
ENST00000538011.5:c.1291C>T	ENSP00000439247.1:n.1291C>T
ENST00000539606.5:c.1375C>T	ENSP00000445325.1:n.1375C>T
ENST00000539695.5:n.1321C>T
ENST00000541022.5:c.942C>T	ENSP00000441230.1:n.942C>T
ENST00000541564.5:c.1015C>T	ENSP00000443640.1:n.1015C>T
ENST00000541716.5:c.1163C>T	ENSP00000437729.1:n.1163C>T
NM_002562.5:c.1152C>T	NP_002553.3:p.Tyr384=
NR_033948.1:n.1518C>T
NR_033949.1:n.1434C>T
NR_033950.1:n.1395C>T
NR_033951.1:n.1379C>T
NR_033952.1:n.1306C>T
NR_033953.1:n.1219C>T
NR_033954.1:n.1198C>T
NR_033955.1:n.1158C>T
NR_033956.1:n.1085C>T
XM_011538418.1:c.885C>T	XP_011536720.1:p.Tyr295=
XM_011538419.1:c.840C>T	XP_011536721.1:p.Tyr280=
XM_011538420.1:c.285C>T	XP_011536722.1:p.Tyr95=
XR_945459.1:n.190-14993G>A
XR_945460.1:n.299-14993G>A
XM_011538419.3:c.840C>T	XP_011536721.1:p.Tyr280=
XM_011538420.3:c.285C>T	XP_011536722.1:p.Tyr95=
XM_017019364.2:c.792C>T	XP_016874853.1:p.Tyr264=
XM_017019365.2:c.792C>T	XP_016874854.1:p.Tyr264=
XM_017019366.2:c.399C>T	XP_016874855.1:p.Tyr133=
XM_017019367.2:c.399C>T	XP_016874856.1:p.Tyr133=
XR_001749352.2:n.186+26088G>A
XR_001749353.2:n.304-14993G>A
XR_001749354.2:n.186+26088G>A
XR_945459.3:n.187-14993G>A
XR_945460.3:n.299-14993G>A
NM_002562.6:c.1152C>T MANE Select	NP_002553.3:p.Tyr384=
NR_033948.2:n.1470C>T
NR_033949.2:n.1386C>T
NR_033950.2:n.1347C>T
NR_033951.2:n.1331C>T
NR_033952.2:n.1258C>T
NR_033953.2:n.1162C>T
NR_033954.2:n.1150C>T
NR_033955.2:n.1110C>T
NR_033956.2:n.1037C>T